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Items: 1 to 20 of 53

1.

Non-Synonymous variants in Premelanosome Protein (PMEL) cause ocular pigment dispersion and pigmentary glaucoma.

Lahola-Chomiak AA, Footz T, Nguyen-Phuoc K, Neil GJ, Fan B, Allen KF, Greenfield DS, Parrish RK, Linkroum K, Pasquale LR, Leonhardt RM, Ritch R, Javadiyan S, Craig JE, Ted Allison W, Lehmann OJ, Walter MA, Wiggs JL.

Hum Mol Genet. 2018 Dec 17. doi: 10.1093/hmg/ddy429. [Epub ahead of print]

PMID:
30561643
2.

Morphogenetic defects underlie Superior Coloboma, a newly identified closure disorder of the dorsal eye.

Hocking JC, Famulski JK, Yoon KH, Widen SA, Bernstein CS, Koch S, Weiss O; FORGE Canada Consortium, Agarwala S, Inbal A, Lehmann OJ, Waskiewicz AJ.

PLoS Genet. 2018 Mar 9;14(3):e1007246. doi: 10.1371/journal.pgen.1007246. eCollection 2018 Mar.

3.

A targeted approach to genome-wide studies reveals new genetic associations with central corneal thickness.

Benson MD, Khor CC, Gage PJ, Lehmann OJ.

Mol Vis. 2017 Dec 15;23:952-962. eCollection 2017.

4.

Genetic background-dependent role of Egr1 for eyelid development.

Oh J, Wang Y, Chen S, Li P, Du N, Yu ZX, Butcher D, Gebregiorgis T, Strachan E, Lehmann OJ, Brooks BP, Chan CC, Leonard WJ.

Proc Natl Acad Sci U S A. 2017 Aug 22;114(34):E7131-E7139. doi: 10.1073/pnas.1705848114. Epub 2017 Aug 4.

5.

Identification of additional risk loci for stroke and small vessel disease: a meta-analysis of genome-wide association studies.

Neurology Working Group of the Cohorts for Heart and Aging Research in Genomic Epidemiology (CHARGE) Consortium, the Stroke Genetics Network (SiGN), and the International Stroke Genetics Consortium (ISGC).

Lancet Neurol. 2016 Jun;15(7):695-707. doi: 10.1016/S1474-4422(16)00102-2. Epub 2016 Apr 7.

6.

Changes at CMAJ.

Lehmann OJ.

CMAJ. 2016 Apr 5;188(6):449-50. doi: 10.1503/cmaj.1150094. No abstract available.

7.

A secreted WNT-ligand-binding domain of FZD5 generated by a frameshift mutation causes autosomal dominant coloboma.

Liu C, Widen SA, Williamson KA, Ratnapriya R, Gerth-Kahlert C, Rainger J, Alur RP, Strachan E, Manjunath SH, Balakrishnan A, Floyd JA; UK10K Consortium, Li T, Waskiewicz A, Brooks BP, Lehmann OJ, FitzPatrick DR, Swaroop A.

Hum Mol Genet. 2016 Apr 1;25(7):1382-91. doi: 10.1093/hmg/ddw020. Epub 2016 Jan 24.

8.

Utility of whole-exome sequencing for those near the end of the diagnostic odyssey: time to address gaps in care.

Sawyer SL, Hartley T, Dyment DA, Beaulieu CL, Schwartzentruber J, Smith A, Bedford HM, Bernard G, Bernier FP, Brais B, Bulman DE, Warman Chardon J, Chitayat D, Deladoëy J, Fernandez BA, Frosk P, Geraghty MT, Gerull B, Gibson W, Gow RM, Graham GE, Green JS, Heon E, Horvath G, Innes AM, Jabado N, Kim RH, Koenekoop RK, Khan A, Lehmann OJ, Mendoza-Londono R, Michaud JL, Nikkel SM, Penney LS, Polychronakos C, Richer J, Rouleau GA, Samuels ME, Siu VM, Suchowersky O, Tarnopolsky MA, Yoon G, Zahir FR; FORGE Canada Consortium; Care4Rare Canada Consortium, Majewski J, Boycott KM.

Clin Genet. 2016 Mar;89(3):275-84. doi: 10.1111/cge.12654. Epub 2015 Sep 22. Review.

9.

Mutation of FOXC1 and PITX2 induces cerebral small-vessel disease.

French CR, Seshadri S, Destefano AL, Fornage M, Arnold CR, Gage PJ, Skarie JM, Dobyns WB, Millen KJ, Liu T, Dietz W, Kume T, Hofker M, Emery DJ, Childs SJ, Waskiewicz AJ, Lehmann OJ.

J Clin Invest. 2014 Nov;124(11):4877-81. doi: 10.1172/JCI75109. Epub 2014 Sep 24.

10.

Sox11 is required to maintain proper levels of Hedgehog signaling during vertebrate ocular morphogenesis.

Pillai-Kastoori L, Wen W, Wilson SG, Strachan E, Lo-Castro A, Fichera M, Musumeci SA, Lehmann OJ, Morris AC.

PLoS Genet. 2014 Jul 10;10(7):e1004491. doi: 10.1371/journal.pgen.1004491. eCollection 2014 Jul.

11.

Mutation of SALL2 causes recessive ocular coloboma in humans and mice.

Kelberman D, Islam L, Lakowski J, Bacchelli C, Chanudet E, Lescai F, Patel A, Stupka E, Buck A, Wolf S, Beales PL, Jacques TS, Bitner-Glindzicz M, Liasis A, Lehmann OJ, Kohlhase J, Nischal KK, Sowden JC.

Hum Mol Genet. 2014 May 15;23(10):2511-26. doi: 10.1093/hmg/ddt643. Epub 2014 Jan 9.

12.

Molecular mechanisms regulating ocular apoptosis in zebrafish gdf6a mutants.

Pant SD, March LD, Famulski JK, French CR, Lehmann OJ, Waskiewicz AJ.

Invest Ophthalmol Vis Sci. 2013 Aug 28;54(8):5871-9. doi: 10.1167/iovs.12-11315.

PMID:
23847306
13.

Mutations in PIK3R1 cause SHORT syndrome.

Dyment DA, Smith AC, Alcantara D, Schwartzentruber JA, Basel-Vanagaite L, Curry CJ, Temple IK, Reardon W, Mansour S, Haq MR, Gilbert R, Lehmann OJ, Vanstone MR, Beaulieu CL; FORGE Canada Consortium, Majewski J, Bulman DE, O'Driscoll M, Boycott KM, Innes AM.

Am J Hum Genet. 2013 Jul 11;93(1):158-66. doi: 10.1016/j.ajhg.2013.06.005. Epub 2013 Jun 27.

14.

Apoptotic and proliferative defects characterize ocular development in a microphthalmic BMP model.

French CR, Stach TR, March LD, Lehmann OJ, Waskiewicz AJ.

Invest Ophthalmol Vis Sci. 2013 Jul 10;54(7):4636-47. doi: 10.1167/iovs.13-11674.

PMID:
23737474
15.

Longitudinal fluorescent observation of retinal degeneration and regeneration in zebrafish using fundus lens imaging.

Duval MG, Chung H, Lehmann OJ, Allison WT.

Mol Vis. 2013 May 23;19:1082-95. Print 2013.

16.

Contribution of growth differentiation factor 6-dependent cell survival to early-onset retinal dystrophies.

Asai-Coakwell M, March L, Dai XH, Duval M, Lopez I, French CR, Famulski J, De Baere E, Francis PJ, Sundaresan P, Sauvé Y, Koenekoop RK, Berry FB, Allison WT, Waskiewicz AJ, Lehmann OJ.

Hum Mol Genet. 2013 Apr 1;22(7):1432-42. doi: 10.1093/hmg/dds560. Epub 2013 Jan 9.

PMID:
23307924
17.

Disparities in healthcare utilisation rates for Aboriginal and non-Aboriginal Albertan residents, 1997-2006: a population database study.

Chung H, Ye M, Hanson C, Oladokun O, Campbell MJ, Kramer G, Lehmann OJ.

PLoS One. 2012;7(11):e48355. doi: 10.1371/journal.pone.0048355. Epub 2012 Nov 12.

18.

Evidence for additional FREM1 heterogeneity in Manitoba oculotrichoanal syndrome.

Mateo RK, Johnson R, Lehmann OJ.

Mol Vis. 2012;18:1301-11. Epub 2012 May 30.

19.

Homozygosity mapping in an anophthalmic pedigree provides evidence of additional genetic heterogeneity.

Khorshidi A, Russell L, Bamforth S, Drummond G, Johnson R, Lehmann OJ.

Ophthalmic Genet. 2012 Dec;33(4):208-20. doi: 10.3109/13816810.2011.648364. Epub 2012 Jan 24.

PMID:
22273394
20.

Forkhead box transcription factor FoxC1 preserves corneal transparency by regulating vascular growth.

Seo S, Singh HP, Lacal PM, Sasman A, Fatima A, Liu T, Schultz KM, Losordo DW, Lehmann OJ, Kume T.

Proc Natl Acad Sci U S A. 2012 Feb 7;109(6):2015-20. doi: 10.1073/pnas.1109540109. Epub 2011 Dec 14.

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